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Atypical presentation of scleroderma in infancy

Navin Mishra1, Devendra Shrestha, Rakesh Babu Poudyal

  • 1KIST Medical College, Lalitpur, Nepal. mishranavin@hotmail.com

Rheumatology International
|February 18, 2011
PubMed

Insights

This case study details a rare infant scleroderma diagnosis at six weeks old, presenting with systemic symptoms and novel inferior vena cava thrombosis. Early-onset scleroderma in infants requires comprehensive evaluation.

Area of Science:

  • Pediatric Rheumatology
  • Dermatology
  • Neonatology

Background:

  • Scleroderma is a rare autoimmune disease characterized by skin and connective tissue hardening.
  • Early-onset scleroderma in infants presents unique diagnostic and management challenges.
  • This case highlights a severe presentation with systemic involvement.

Observation:

  • A female infant developed progressive skin tightening, joint contractures, and limited mouth opening from 6 weeks of age.
  • Systemic manifestations included anemia, failure to thrive, recurrent diarrhea, and ascites.
  • Skin biopsy confirmed scleroderma; echocardiography revealed an inferior vena cava thrombus.

Findings:

  • The infant's scleroderma onset at 6 weeks is among the youngest reported.
  • Serological markers for autoimmune diseases were negative, complicating diagnosis.
  • Inferior vena cava thrombosis in a pediatric scleroderma case is a novel finding.

Implications:

  • This case underscores the importance of considering scleroderma even with negative serological markers in neonates.
  • The co-occurrence of thrombosis suggests a potential link requiring further investigation.
  • Highlights the need for early diagnosis and multidisciplinary management in severe pediatric scleroderma.

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